Download Functional Assay to Investigate Unclassified Sequence Variants of

Functional Assay to Investigate Unclassified
Sequence Variants of Mismatch Repair Genes
Market Sector: Oncology, genetics, gastroenterology, colorectal cancer
Fig. 1 Top panel: Mismatch repair defect . Bottom panel: No mismatch repair defect.
Colorectal cancer is a major public health problem throughout the world.
Several dietary and environmental risk factors have been identified, and there
is also a significant genetic contribution to the aetiology of the condition.
An inborn defect in one of the DNA mismatch repair (MMR) genes underlies
cancer predisposition in patients with Hereditary Nonpolyposis Colorectal
Cancer (HNPCC). Currently, subtle gene alterations (e.g. one amino acid) are
found in 30% of putative patients. Patients with such an alteration, cannot be
properly diagnosed because not all alterations result in a dysfunctional protein.
Therefore, carriers of an ambiguous alteration, but also unaffected first-degree
relatives require periodic colonoscopy and for women additional periodic
transvaginal echography to detect onset of the disease at an early stage.
Albinusdreef 2, PoBox 9600, 2300 RC Leiden, The Netherlands
LEIDEN UNIVERSITY MEDICAL CENTER
It is amongst the objects of the present invention to provide an easily
applicable in vitro assay for detecting whether or not an amino acid
alteration in a MMR gene leads to a loss or reduction in MMR and as a
consequence the potential to develop, for example, cancer such as in
HNPCC. Thus, the invention enables correct diagnosis in more presumed
HNPCC patients.
Keywords
Key Benefits
Hereditary Non-polyposis Colorectal Cancer

(HNPCC), Lynch Syndrome
testing of subtle mutations which are
found in 30% of putative HNPCC
patients
Current study

non-invasive, completely in vitro assay
The method is proven to work in principal for

no patient material required
the three major MMR genes implied in HNPCC;

Patients with mutations that are
the assay of the fourth gene is in progress. We
diagnosed as pathogenic are advised to
are working on improving the method to
enroll periodic screening whereas first-
optimize sensitivity and throughput.
degree relatives that do not carry the
The method can and should be validated using
mutation can be released from
a patient panel. This is currently underway.
screening
For further information, please contact LUMC.
Patent / IP Status
Commercial Partner Sought
LUMC seeks to find a company / companies
who has / have extensive experience in the
development and production of kits or
Patent application filed April 2007
Applications
Diagnosis and screening in vitro assay
companies that could perform / have the
capacity to perform diagnostic services.
Contact details
Mrs. drs. Hester Tak, Tech Transfer Advisor, [email protected]
Tel. +31 71 526 3033, Fax +31 71 526 6882
www.lumc.nl
Leiden University Medical Center (LUMC) is strongly committed to the advancement of health care,
through research and innovation. In particular, the focus is on translational research, with the overall
aim to accelerate transfer of findings from the laboratory to clinical application, and to the market.
LUMC has a reputation as a pioneering institute in its field, both nationally and internationally.
LEIDEN UNIVERSITY MEDICAL CENTER